He pilikia kou me kou mau platelets koko? E aʻo kākou e pili ana i ka 'May-Hegglin Anomaly'!

Ua lohe paha ʻoe i ka inoa ʻo 'May-Hegglin Anomaly'? ʻAʻole paha. No ka mea, he mea laha ʻole kēia, ʻo ia hoʻi, he ʻano genetic i ʻike pinepine ʻole ʻia. Akā, ʻaʻole anei ʻoe e makaʻu ke lohe ʻoe i kēia inoa? I kēia lā, e kamaʻilio kākou e pili ana i kēia me ka maʻalahi, ma ke ʻano hiki iā ʻoe ke hoʻomaopopo. No ka mea, he mea nui loa ka ʻike ʻana i kēia.

He aha kēia 'May-Hegglin Anomaly'?

I ka ʻōlelo maʻalahi, ʻo May-Hegglin Anomaly kahi maʻi i hoʻokumu ʻia e kahi loli liʻiliʻi i loko o kāu mau genes (kahi hoʻololi genetic). ʻO kēia ke kumu o kou kino e hana i nā platelets, ʻo ia hoʻi nā ʻāpana koko liʻiliʻi a mākou e kapa nei he platelets, he nui iki a hana i ka liʻiliʻi ma mua o ka mea e pono ai. ʻO kēia emi ʻana o nā platelets i ʻike ʻia ma ke ʻano lapaʻau ʻo thrombocytopenia.

I kēia manawa, ke noʻonoʻo nei paha ʻoe i ka mea e hana ʻia ana i kēia mau platelets. E noʻonoʻo he ʻeha liʻiliʻi kou. A laila kōkua kēia mau platelets i ka hoʻōki ʻana i ke kahe ʻana o ke koko. Hoʻokumu lākou i kahi ʻūpā koko a hoʻōki i ke kahe ʻana o ke koko. No laila, ʻo ke kanaka me ka 'May-Hegglin Anomaly', no ka mea, he nui loa kēia mau platelets a he liʻiliʻi hoʻi ka nui, hiki i kekahi manawa ke ʻeha a kahe paha ke koko ma mua o ke kanaka maʻamau. Hiki nō hoʻi ke hoʻonui ʻia kēlā ʻano kahe koko (ʻo ia hoʻi, he "hemorrhage") ma hope o ke ʻoki kino nui.

Akā eia kekahi mea e hoʻomanaʻo ai: ʻAʻole hōʻike ka nui o ka poʻe me kēia maʻi i kekahi mau hōʻailona. A i ʻole, ʻaʻole ia e hoʻoulu i nā pilikia nui. Akā, inā he mau hōʻailona kou a ʻaʻole paha, he mea nui e ʻike he May-Hegglin Anomaly kou. A laila hiki iā ʻoe a me kāu mau kauka ke hana i nā hana e pono ai e pale iā ʻoe iho mai nā ulia a me ke kahe ʻana o ke koko.

ʻEkolu mau ʻano nui e kuhikuhi ai i ka 'May-Hegglin Anomaly'?

ʻAe, ʻekolu mau mea nui a nā kauka e nānā ai e ʻike pololei i kēia maʻi. ʻO kēia ka mea a mākou e kapa nei he 'triad'. ʻO ia hoʻi, ʻekolu mau hiʻohiʻona hiʻohiʻona.

ʻo lākou:

• Loaʻa nā platelets nui ma ke ʻano ʻē: Kāhea mākou i kēia macrothrombocytopenia.
• Ka emi ʻana o ka helu platelet: ʻO kēia ke kūlana a mākou i kamaʻilio ai ma mua i kapa ʻia ʻo thrombocytopenia.
• E ʻike paha ʻoe i nā ʻano liʻiliʻi, ʻano koʻokoʻo i kapa ʻia he mau kino Döhle i loko o kou mau leukocytes, kahi ʻano keʻokeʻo koko. He kūikawā kēia mau kino Döhle.

Hiki i nā kauka ke hoʻokaʻawale i ka May-Hegglin Anomaly mai nā maʻi ʻē aʻe e hoʻopilikia ana i nā platelets ma ka nānā ʻana i kēia mau ʻano ʻekolu.

Pehea ka maʻamau o kēia ʻano? A i ʻole he mea kākaʻikahi paha?

He maʻi laha ʻole ka 'May-Hegglin Anomaly'.Wahi a nā hōʻike noiʻi lapaʻau, aia ma lalo o 200 mau hihia ma ka honua holoʻokoʻa. E noʻonoʻo i ka laha ʻole o ia mea! No ka mea he mea laha ʻole ia, kānalua pinepine nā kauka i ka wā mua. Pono paha kāu kauka e kāpae i kekahi mau kūlana ʻē aʻe e hiki ke hoʻopilikia i kāu mau platelets ma mua o ka hoʻoholo ʻana he May-Hegglin Anomaly kāu.

He aha nā hōʻailona o ke ʻano ʻē o May-Hegglin?

E like me kā mākou i ʻōlelo ai ma mua, ʻo ka hapa nui o ka poʻe me kēia maʻi ʻaʻole lākou e ʻike i nā hōʻailona nui. ʻO kēia no ka mea he lawa ko lākou mau platelets i loko o ko lākou kino e pale aku ai i ke kahe nui ʻana o ke koko. Eia nō naʻe, inā ʻike ʻoe i nā hōʻailona, ​​​​e hilinaʻi nui lākou i ka haʻahaʻa o kāu helu platelet.

Eia nā hōʻailona i ʻike ʻia ma ke ʻano laulā:

• ʻEha a kahe koke ke koko. E lilo ana i polū ma hope o kahi puʻupuʻu liʻiliʻi, a i ʻole e hoʻōki ana i ke kahe ʻana o ke koko no kekahi manawa mai kahi ʻoki liʻiliʻi.
• Kahe pinepine ʻana o ka ihu. Kapa kekahi poʻe i kēia he `(epistaxis)`.
• Nā ʻāʻī koko. Hiki ke hana kēia i ka wā e palaki ai ʻoe i kou mau niho.
• No nā wāhine, ke kahe nui ʻana o ke koko i ka wā o ka menstruation. Ua kapa ʻia hoʻi kēia he `(menorrhagia)`.
• Nā kiko ʻulaʻula, poni, a ʻeleʻele paha ma ka ʻili. Ua kapa ʻia kēia he "purpura".
• Ke kahe nui nei ke koko ma hope o ke ʻoki ʻana, i ka wā e unuhi ʻia ai nā niho, a ma hope paha o ka hānau ʻana o kahi pēpē.

ʻO ka mea nui, mai makaʻu ʻoe e manaʻo he May-Hegglin Anomaly kou no ka mea he hoʻokahi a ʻelua paha o kēia mau hōʻailona kou. Hiki ke hana ʻia kēia mau mea e nā kūlana ʻē aʻe. No laila, ʻoi aku ka maikaʻi o ka ʻimi ʻana i ke kōkua lapaʻau.

He aha ke kumu o ka 'May-Hegglin Anomaly'?

ʻO ka May-Hegglin Anomaly kahi maʻi genetic i hoʻoilina ʻia mai kekahi o kou mau mākua. Loaʻa iā mākou kahi gene i kapa ʻia ʻo `MYH9` i loko o ko mākou kino. Eia kahi loli liʻiliʻi e hana ʻia ana i loko o kēia gene `MYH9`, ʻo ia hoʻi, he `mutation`, ʻo ia ke kumu nui o kēia. Ma muli o kēia mutation gene, kū mai nā pilikia i ke ʻano o ka hoʻokumu ʻia ʻana o nā platelets. ʻO ia ke kumu i hoʻokumu ʻia ai lākou i nā ʻano nui a ʻano ʻē. Eia kekahi, ma muli o kēia mutation gene `MYH9`, ua emi pū ka helu o nā platelets. ʻO ia ke kumu e hiki ai iā ʻoe ke ʻeha a kahe ke koko me ka maʻalahi.

Kāhea mākou i ke ʻano hoʻoilina o May-Hegglin Anomaly he ʻano autosomal dominant. ʻO ke ʻano kēia, pono ʻoe e loaʻa i hoʻokahi kope o ka gene MYH9 i hoʻololi ʻia e loaʻa ai ke kūlana. ʻO ke ʻano kēia, inā loaʻa i kou makuahine a makua paha ka mutation, he 50% kou manawa e hoʻoilina ai.

Pehea e ʻike ai i ka anomaly May-Hegglin?

ʻO ka hapa nui o ka manawa, ʻike ʻia ka May-Hegglin Anomaly ma ke ʻano ulia i ka wā o kahi hoʻāʻo koko i hana ʻia no kekahi kumu ʻē aʻe. Manaʻo nā kauka i kēia ke hōʻike nā hopena o nā hoʻāʻo koko i ka helu platelet haʻahaʻa a i ʻole ka helu platelet kiʻekiʻe. No ka laʻana, hiki ke ʻike ʻia kēia i ka wā o kahi hoʻāʻo koko maʻamau i ka wā hāpai.

Aia kekahi mau hoʻokolohua e hiki ke hoʻohana ʻia e hoʻoholo ai inā loaʻa iā ʻoe ka May-Hegglin Anomaly:

• Helu Koko Piha (CBC): Hiki i kēia hoʻāʻo "(CBC)" ke nānā inā haʻahaʻa kāu helu platelet. Ma kēia kūlana, hiki i ka helu platelet ma waena o 40,000 a me 80,000 no kēlā me kēia microliter o ke koko. I kekahi manawa hiki ke maʻamau. E hoʻomanaʻo, ma ke ʻano maʻamau ke manaʻo nei mākou he "haʻahaʻa" inā emi ka helu platelet ma mua o 150,000 no kēlā me kēia microliter o ke koko.
• ʻO ka Peripheral Blood Smear (PBS): Hiki i kēia hoʻāʻo PBS ke nānā i ka helu o kāu platelet. Nānā pū ia i ke alo o kēlā mau ʻano hana like me ke koʻokoʻo i kapa ʻia ʻo Döhle bodies, a mākou i kamaʻilio ai ma mua, i loko o kāu mau leukocytes.
• Nā hoʻokolohua hoʻoilina: Hiki i kēia hoʻokolohua ke hōʻoia inā he mutation kou i loko o kāu gene 'MYH9'.

Eia kekahi, e nānā kāu kauka i nā hōʻailona ʻē aʻe o nā platelets haʻahaʻa, e like me ka hoʻonui ʻana i ka manawa kahe koko.

Pehea e mālama ʻia ai ka Anomaly May-Hegglin?

ʻO kaʻoiaʻiʻo, ʻo ka hapa nui o ka poʻe me May-Hegglin Anomaly ʻaʻole i loaʻa nā hōʻailona koʻikoʻi e pono ai ka mālama ʻana. He mea hōʻoluʻolu maoli kēlā, ʻeā? Eia nō naʻe, inā pono ʻoe e hana i ke ʻoki ʻana, pono paha kāu kauka e hana i nā hana palekana hou aʻe e pale aku i ke kahe nui ʻana o ke koko. No ka laʻana, hiki ke hāʻawi ʻia kahi lāʻau i kapa ʻia ʻo desmopressin ma ke ʻano intravenous ma mua o ke ʻoki ʻana e hōʻemi i ka pilikia o ke kahe ʻana o ke koko, a i ʻole e hāʻawi ʻia kahi transfusion platelet.

Inā nui kou kahe ʻana o ke koko, e like me kahi ulia, pono paha ʻoe i kahi hoʻoili platelet e hoʻihoʻi i kāu mau pae platelet.

Inā hāpai ʻoe, pono ʻoe e nānā hou aku. ʻO ka hapa nui o nā wahine me May-Hegglin Anomaly e hānau i nā pēpē olakino me ka ʻole o nā pilikia. Eia nō naʻe, ʻo kēlā me kēia kūlana e hoʻonui ai i ka pilikia o ke kahe ʻana he mea weliweli ia i ka wā hāpai. No laila, e aʻo aku kāu kauka hānau keiki a me ke kauka wahine iā ʻoe i ka mea e hana ai e pale iā ʻoe iho a me kāu pēpē i hānau ʻole ʻia. He mea nui loa ka hahai ʻana i kēlā mau kuhikuhi.

He aha kāu e manaʻo ai i ka wā e noho pū ai me ka 'May-Hegglin Anomaly'?

He maʻi no ke ola holoʻokoʻa ka May-Hegglin Anomaly. He ʻoiaʻiʻo nō ia.Akā, ʻo ka mea pōmaikaʻi, no ka hapa nui o nā kānaka, ʻaʻole kēia e hoʻopilikia nui i ko lākou ola o kēlā me kēia lā. ʻAʻohe hōʻailona o ka nui o ka poʻe me kēia maʻi, a i ʻole he mau hōʻailona liʻiliʻi wale nō. Inā haʻahaʻa kāu helu platelet a ke pilikia nei ʻoe, e aʻo aku kāu kauka iā ʻoe i nā ala e kāohi ai i ke kahe ʻana o ke koko inā ʻeha ʻoe. No laila, ʻaʻohe mea e hopohopo ai.

Hiki ke pale ʻia ka 'May-Hegglin Anomaly'?

ʻOiaʻiʻo, ʻaʻohe mea hiki iā ʻoe ke hana e pale aku i ka May-Hegglin Anomaly. He maʻi hoʻoilina kēia. Eia nō naʻe, inā ʻoe e hoʻolālā ana e loaʻa kahi keiki, ʻoiai inā loaʻa iā ʻoe a i ʻole kāu hoa ke maʻi, he manaʻo maikaʻi e kamaʻilio me kahi kākāʻōlelo hoʻoilina. Inā loaʻa iā ʻoe a i ʻole kāu hoa ka May-Hegglin Anomaly, he 50% ka manawa e loaʻa ai i kāu keiki ke maʻi.

Hiki i ke kākā'ōlelo genetic ke loiloi i nā pilikia āu e loaʻa ai a aʻo iā ʻoe i kāu mau koho. He kōkua nui kēlā.

Pehea e mālama ai iaʻu iho? (Mālama ponoʻī)

Inā ʻike ʻoe he May-Hegglin Anomaly kou, ʻo kekahi o nā mea maikaʻi loa hiki iā ʻoe ke hana, ʻo ia ke kamaʻilio me kāu kauka e pili ana i ke ʻano e mālama ai i ke kūlana. He mea nui e makaʻala i kēia mau mea:

• E makaʻala me nā lāʻau lapaʻau: Hiki i kekahi mau lāʻau lapaʻau ke hoʻopilikia i ka hana o kāu mau platelets. No laila, e ʻike pono i nā lāʻau lapaʻau e hōʻino iā ʻoe, pehea e pale aku ai iā lākou, a pehea e lawe ai iā lākou i nā dosis palekana. Mai hoʻohana i kekahi lāʻau lapaʻau me ka ʻole o ke nīnau ʻana i kāu kauka.
• E mālama i ka hoʻomaʻemaʻe waha maikaʻi: ʻO ka mālama pono ʻana i kou hoʻomaʻemaʻe waha e hiki ke kōkua i ka pale ʻana i ke kahe ʻana o ke koko. He manaʻo maikaʻi nō hoʻi e ʻike pinepine i ke kauka niho.
• E makaʻala i nā hana e hiki ai ke hōʻeha: E makaʻala loa i ka wā e pāʻani ana i nā haʻuki e hiki ai ke hōʻeha (no ka laʻana, nā haʻuki pili). Pono paha ʻoe e pale aku iā lākou. E kamaʻilio pū me kāu kauka e pili ana i kēia.
• E makaʻala i nā pilikia i ka wā hāpai: I mea e pale aku ai i nā pilikia i kou wā hāpai ma muli o 'May-Hegglin Anomaly', e nānā i kou olakino a e hana pū me kāu kauka hānau keiki a me ke kauka wahine.

He aha kaʻu e nīnau aku ai i kaʻu kauka?

Eia kekahi mau nīnau e nīnau aku ai i kāu kauka inā ʻike ʻoe he May-Hegglin Anomaly kou:

• "E ke kauka, pehea ka nui o koʻu hemahema platelet (thrombocytopenia)?"
• "I ka manawa hea e hopohopo ai au e pili ana i ka emi ʻana o kaʻu helu platelet?"
• "He aha nā hōʻailona e pono iaʻu e makaʻala nui ai?"
• "He aha nā hoʻololi e pono ai iaʻu e hana i koʻu ola o kēlā me kēia lā e mālama ai i kēia maʻi?"
• "He manaʻo maikaʻi anei no māua a me kaʻu hoa e loaʻa i ke aʻoaʻo hoʻoilina?"

Mai makaʻu e nīnau i nā nīnau e like me kēia. He mea nui loa ia e hoʻomaʻemaʻe i nā kānalua āu e loaʻa ai.

Aia kekahi mau maʻi ʻē aʻe e pili ana me ka gene `MYH9`?

ʻAe, ʻo May-Hegglin Anomaly kahi hui o nā maʻi e pili ana i ka gene MYH9. Hoʻokumu ʻia kēia mau maʻi āpau e kahi mutation i loko o ka gene MYH9. Ua ʻike ʻia e ka noiʻi, ma waho aʻe o May-Hegglin Anomaly, ʻekolu mau kūlana ʻē aʻe e hoʻoulu ai i nā platelets abnormal a me nā helu platelet haʻahaʻa i hoʻokumu ʻia e nā mutations i loko o ka gene MYH9. ʻO nā mea ʻekolu ʻē aʻe:

• ʻO ka maʻi Epstein
• ʻO ka maʻi Fechtner
• ʻO ka maʻi Sebastian

Ma muli o ka pili loa ʻana o kēia mau maʻi a pau kekahi i kekahi, a no ka mea hoʻokahi ko lākou kumu, hiki paha i ka hala ʻana o ka manawa e nalowale kēia mau inoa kaʻawale, a e kapa ʻia lākou a pau he "MYH9-related disorders."

No laila, he aha ka mea nui loa a kākou e hoʻomanaʻo ai mai kēia moʻolelo? (Leka Lawe-Home)

ʻO ka May-Hegglin Anomaly kahi maʻi e pili ana i nā platelets nui a me nā helu platelet haʻahaʻa. Eia naʻe, ʻaʻole ia he manaʻo e loaʻa iā ʻoe nā pilikia nui. Me kēia maʻi, hilinaʻi nui ia i ka haʻahaʻa o kāu helu platelet. ʻO ka hapa nui o ka poʻe me kēia maʻi he lawa nā platelets e pale ai i ke kahe koko nui. Hiki i kekahi ke pilikia i ke kahe koko nui.

No laila, ʻo ka mea nui loa, ʻo ia ke kamaʻilio me kāu kauka, e hoʻomaopopo pono i nā hana palekana e pono ai ʻoe e hana e hōʻemi i kou pilikia o ke kahe ʻana o ke koko, a hana e like me ia. ʻO ka mea nui loa, ʻaʻole e makaʻu, e ʻike ʻia, a e hahai i nā ʻōlelo aʻoaʻo lapaʻau. Aloha nui iā ʻoe!

ʻAnomaly May -Hegglin, platelets, thrombocytopenia, gene MYH9, kahe koko, nā maʻi genetic, nā maʻi koko